Canonical Allele Identifier: CA2639603040
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123411-CGCGCCTCTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123416_72123424del , CM000679.2:g.72123416_72123424del GRCh38
NC_000017.10:g.70119557_70119565del , CM000679.1:g.70119557_70119565del GRCh37
NC_000017.9:g.67631152_67631160del NCBI36
NG_012490.1:g.7397_7405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-127_686-119del MANE Select ENSP00000245479.2:n.686-127_686-119del
ENST00000245479.2:c.686-127_686-119del ENSP00000245479.2:n.686-127_686-119del
NM_000346.3:c.686-127_686-119del NP_000337.1:n.686-127_686-119del
NM_000346.4:c.686-127_686-119del MANE Select NP_000337.1:n.686-127_686-119del
Search 100 bp 5'
Search 100 bp 3'